Mutations in the IL2RG gene cause approximately 30 perce...

Question

Mutations in the IL2RG gene cause approximately 30 percent of severe combined immunodeficiency disorder (SCID) cases in humans. These mutations result in alterations to a protein component of cytokine receptors that are essential for proper development of the immune system. The IL2RG gene is composed of eight exons and contains upstream and downstream sequences that are necessary for proper transcription and translation. Below are some of the mutations observed. For each, explain its likely influence on the IL2RG gene product (assume its length to be 375 amino acids).

Nonsense mutation in a coding region

Accepted Answer

Hi everyone. Let's look at our next problem. It says Duchenne muscular dystrophy is a condition in which the blank gene undergoes a nonsense mutation. So we have different gene names here. And Duchenne muscular dystrophy is caused by this nonsense mutation in Choice C, the dystrophin protein. So we looked through other answer choices. Uh their genes that end up causing other genetic conditions. Choice AFGFR three is associated with the condition of achondroplasia. So that's not our answer choice. Cross that off the CFTR. Gene choice be CFTR is associated associated with disorder cystic fibrosis. The mutation in that gene and finally, choice d. f. b. n. one A mutation in this gene is associated with Marfan syndrome. So again, not our correct answer. So, Duchenne muscular dystrophy is a condition in which the choice C dystrophin gene undergoes a nonsense mutation. See you in the next video.

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